Variant report

Variant	rs6994260
Chromosome Location	chr8:65498332-65498333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:65497643-65498855	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr8:65497947-65498523	GM12891	blood:	n/a	n/a
3	POLR2A	chr8:65497991-65498765	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
5	SUZ12	chr8:65497932-65500143	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:65497839-65498643	GM12891	blood:	n/a	n/a
7	POLR2A	chr8:65498318-65498332	A549	lung:	n/a	n/a
8	POLR2A	chr8:65498304-65499967	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:65492030..65493969-chr8:65497416..65499279,2	K562	blood:

Variant related genes	Relation type
ENSG00000254102	TF binding region
ENSG00000180828	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16931340	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931343	1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931365	1.00[MEX][hapmap]
rs16931369	1.00[MEX][hapmap]
rs6991989	1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73237707	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73237717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65497600-65498400	Weak transcription	Right Atrium	heart
2	chr8:65497800-65499600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
3	chr8:65498000-65498400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr8:65498000-65498400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr8:65498000-65498400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:65498000-65498400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:65498000-65498400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
8	chr8:65498000-65499400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr8:65498200-65498400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr8:65498200-65498400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:65498200-65498400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr8:65498200-65498400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:65498200-65498400	Bivalent Enhancer	Brain Angular Gyrus	brain
14	chr8:65498200-65498400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
15	chr8:65498200-65498600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr8:65498200-65498600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:65498200-65498600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr8:65498200-65498800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
19	chr8:65498200-65498800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:65498200-65498800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:65498200-65498800	Enhancers	Pancreas	Pancrea
22	chr8:65498200-65499800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr8:65498200-65499800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr8:65498200-65500000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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